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The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.<\/jats:p>","DOI":"10.1002\/ajmg.1320410408","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:31:54Z","timestamp":1118550714000},"page":"426-431","source":"Crossref","is-referenced-by-count":10,"title":["First report of management and outcome of pregnancies associated with hereditary orotic aciduria"],"prefix":"10.1002","volume":"41","author":[{"given":"Jeannette T.","family":"Bensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lewis H.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark J.","family":"Pettenati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven M.","family":"Block","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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